• Mutation; HGNC; 171; ACVR1; Simple; p.Gly328Val (c.983G>T); ClinVar=VCV000376363; Zygosity=Unspecified (PubMed=28823557).
  
• Mutation; HGNC; 4776; H3C2; Simple; p.Lys28Met (c.83A>T) (H3.1K27M); Zygosity=Unspecified (PubMed=25939062).
  

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PubMed=31439867; DOI=10.1038/s41467-019-11732-6; PMCID=PMC6706443
Fons N.R., Sundaram R.K., Breuer G.A., Peng S., McLean R.L., Kalathil A.N., Schmidt M.S., Carvalho D.M., Mackay A., Jones C., Carcaboso A.M., Nazarian J., Berens M.E., Brenner C., Bindra R.S.
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PubMed=33319914; DOI=10.1093/gigascience/giaa136; PMCID=PMC7736793
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He C., Xu K., Zhu X.-Y., Dunphy P.S., Gudenas B., Lin W.-W., Twarog N., Hover L.D., Kwon C.-H., Kasper L.H., Zhang J.-Y., Li X.-Y., Dalton J., Jonchere B., Mercer K.S., Currier D.G., Caufield W., Wang Y.-Z., Xie J., Broniscer A., Wetmore C., Upadhyaya S.A., Qaddoumi I., Klimo P., Boop F., Gajjar A., Zhang J.-H., Orr B.A., Robinson G.W., Monje M., Freeman B.B. 3rd, Roussel M.F., Northcott P.A., Chen T.-S., Rankovic Z., Wu G., Chiang J.C.-H., Tinkle C.L., Shelat A.A., Baker S.J.
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